Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Association between fibrosis-related gene polymorphism and long-term allograft outcome in renal transplant recipients.
Yin Y et al.
Bmc Medical Genomics, 2023
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies.
Pope DH et al.
Journal of Clinical Medicine, 2020
A Single-Nucleotide Polymorphism (rs1131243) of the Transforming Growth Factor Beta Signaling Pathway Contributes to Risk of Acute Rejection in Chinese Renal Transplant Recipients.
Zheng M et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.
Wellbrock J et al.
Plos One, 2014
TGFBR2 gene polymorphism is associated with ossification of the posterior longitudinal ligament.
Jekarl DW et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2013
Transforming growth factor-β1 polymorphisms and the outcome of hematopoietic stem cell transplantation.
Arrieta-Bolaños E et al.
International Journal of Immunogenetics, 2012
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.
Ha JS et al.
Korean Journal of Pediatrics, 2011
Association of gene polymorphisms with chronic kidney disease in high- or low-risk subjects defined by conventional risk factors.
Yoshida T et al.
International Journal of Molecular Medicine, 2009
Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?
Waldmüller S et al.
European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery, 2007
Genetic factors for obesity.
Yamada Y et al.
International Journal of Molecular Medicine, 2006
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
Sakai H et al.
American Journal of Medical Genetics. Part A, 2006
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
Singh KK et al.
Human Mutation, 2006
Assessment of genetic factors for type 2 diabetes mellitus.
Yamada Y et al.
International Journal of Molecular Medicine, 2006
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.
Ki CS et al.
Clinical Genetics, 2005
Chromosome 3p tumor-suppressor gene alterations in cervical carcinomas.
Herzog CR et al.
Molecular Carcinogenesis, 2001